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BCL11B-related disease: a single phenotypic entity? Vedovato-dos-Santos, J. Heather; Tooze, Rebecca S.; Sithambaram, Sivagamy; Mccann, Emma; Alanay, Yasemin; Dogan, Ozlem A.; Kilercik, Meltem; Bingol, Aysen; Ozek, Memet M.; Johnson, David; Nellaker, Christoffer; Wilkie, Andrew O. M.; Twigg, Stephen R. F. Share Save
Whole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange Syndrome Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison Share Save
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus Maroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Haerian, Alireza; Soltanianzadeh, Mojtaba; Kooshki, Mohammad Hadi Noori; Knight, Samantha J. L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uira Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R. F.; Taylor, Jenny C.; Wilkie, Andrew O. M.; Calpena, Eduardo Share Save
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline Wood, Katherine A.; Tong, R. Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R.; Bush, Stephen J.; Maxwell, Dale W.; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B.; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew O. M.; Lin, Angela E.; Cormier-Daire, Valerie; Twigg, Stephen R. F.; Tartaglia, Marco; Goriely, Anne Share Save
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients Watts, Laura M.; Bertoli, Marta; Attie-Bitach, Tania; Roux, Natalie; Rausell, Antonio; Paschal, Cate R.; Zambonin, Jessica L.; Curry, Cynthia J.; Martin, Blanche; Tooze, Rebecca S.; Hawkes, Lara; Kini, Usha; Twigg, Stephen R. F.; Wilkie, Andrew O. M. Share Save
Population screening requires robust evidence-genomics is no exception Turnbull, Clare; Firth, Helen, V; Wilkie, Andrew O. M.; Newman, William; Raymond, F. Lucy; Tomlinson, Ian; Lachmann, Robin; Wright, Caroline F.; Wordsworth, Sarah; George, Angela; Mccartney, Margaret; Lucassen, Anneke Share Save
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome Miller, Kerry A.; Cruz Walma, David A.; Pinkas, Daniel M.; Tooze, Rebecca S.; Bufton, Joshua C.; Richardson, William; Manning, Charlotte E.; Hunt, Alice E.; Cros, Julien; Hartill, Verity; Parker, Michael J.; Mcgowan, Simon J.; Twigg, Stephen R. F.; Chalk, Rod; Staunton, David; Johnson, David; Wilkie, Andrew O. M.; Bullock, Alex N. Share Save
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis Luyckx, Ilse; Walton, Isaac Scott; Boeckx, Nele; Van Schil, Kristof; Pang, Chingyiu; De Praeter, Mania; Lord, Helen; Watson, Christopher Mark; Bonthron, David T.; Van Laer, Lut; Wilkie, Andrew O. M.; Loeys, Bart Share Save
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M. Share Save
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project Moore, A. Rachel; Yu, Jing; Pei, Yang; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Walker, Woolf T.; Thomas, N. Simon; Kamath, Arveen; Ibitoye, Rita; Josifova, Dragana; Wilsdon, Anna; Ross, Alison; Calder, Alistair D.; Offiah, Amaka C.; Wilkie, Andrew O. M.; Taylor, Jenny C.; Pagnamenta, Alistair T. Share Save
Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway Vogiatzi, Angeliki; Baltsavia, Ismini; Dialynas, Emmanuel; Theodorou, Vasiliki; Zhou, Yan; Deligianni, Elena; Iliopoulos, Ioannis; Wilkie, Andrew O. M.; Twigg, Stephen R. F.; Mavrothalassitis, George Share Save
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation Bernkopf, Marie; Abdullah, Ummi B.; Bush, Stephen J.; Wood, Katherine A.; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J.; Thibaut, Loic M.; Williams, Jonathan; Blair, Edward M.; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T.; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A.; Johnson, Diana; Jones, Wendy D.; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M.; Leitch, Harry G.; Morton, Jenny E. V.; Nemeth, Andrea H.; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J.; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W.; Wilkie, Andrew O. M.; Goriely, Anne Share Save
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The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay Lippincott, Margaret F.; Xu, Wanxue; Smith, Abigail A.; Miao, Xinyu; Lafont, Agathe; Shennib, Omar; Farley, Gordon J.; Sabbagh, Riwa; Delaney, Angela; Stamou, Maria; Plummer, Lacey; Salnikov, Kathryn; Georgopoulos, Neoklis A.; Mericq, Veronica; Quinton, Richard; Mau-Them, Frederic Tran; Nambot, Sophie; Hamad, Asma; Brittain, Helen; Tooze, Rebecca S.; Calpena, Eduardo; Wilkie, Andrew O. M.; Willems, Marjolaine; Crowley, William F.; Balasubramanian, Ravikumar; Lamarche-Vane, Nathalie; Davis, Erica E.; Seminara, Stephanie B. Share Save
The endogenous calpain inhibitor calpastatin attenuates axon degeneration in murine Guillain-Barre syndrome McGonigal, Rhona; Cunningham, Madeleine E.; Smyth, Duncan; Chou, Michael; Barrie, Jennifer A.; Wilkie, Andrew; Campbell, Clare; Saatman, Kathryn E.; Lunn, Michael; Willison, Hugh J. Share Save
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